Incidental Mutation 'R1166:Slc2a9'
| ID |
101004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a9
|
| Ensembl Gene |
ENSMUSG00000005107 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 9 |
| Synonyms |
Glut9, SLC2A9B, SLC2a9A |
| MMRRC Submission |
039239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R1166 (G1)
|
| Quality Score |
154 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38506616-38660486 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 38539384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005238]
[ENSMUST00000067872]
[ENSMUST00000067886]
[ENSMUST00000122970]
[ENSMUST00000129099]
[ENSMUST00000143758]
[ENSMUST00000155634]
[ENSMUST00000156272]
|
| AlphaFold |
Q3T9X0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005238
|
| SMART Domains |
Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
20 |
208 |
3.5e-10 |
PFAM |
|
Pfam:Sugar_tr
|
25 |
188 |
1.1e-35 |
PFAM |
|
Pfam:Sugar_tr
|
191 |
373 |
5.3e-39 |
PFAM |
|
Pfam:MFS_1
|
196 |
397 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000067872
|
| SMART Domains |
Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
329 |
2.2e-16 |
PFAM |
|
Pfam:Sugar_tr
|
25 |
480 |
2.5e-103 |
PFAM |
|
Pfam:MFS_1
|
321 |
502 |
3.3e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000067886
|
| SMART Domains |
Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
37 |
344 |
1.7e-16 |
PFAM |
|
Pfam:Sugar_tr
|
40 |
495 |
9.8e-107 |
PFAM |
|
Pfam:MFS_1
|
328 |
518 |
1.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122970
|
| SMART Domains |
Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
28 |
269 |
7.5e-14 |
PFAM |
|
Pfam:Sugar_tr
|
40 |
260 |
2e-48 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129099
|
| SMART Domains |
Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
329 |
2.2e-16 |
PFAM |
|
Pfam:Sugar_tr
|
25 |
480 |
2.5e-103 |
PFAM |
|
Pfam:MFS_1
|
321 |
502 |
3.3e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143758
|
| SMART Domains |
Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
37 |
223 |
4.2e-10 |
PFAM |
|
Pfam:Sugar_tr
|
40 |
203 |
1.2e-35 |
PFAM |
|
Pfam:Sugar_tr
|
206 |
388 |
5.8e-39 |
PFAM |
|
Pfam:MFS_1
|
209 |
411 |
2.2e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155634
|
| SMART Domains |
Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
329 |
2.2e-16 |
PFAM |
|
Pfam:Sugar_tr
|
25 |
480 |
2.5e-103 |
PFAM |
|
Pfam:MFS_1
|
321 |
502 |
3.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156272
|
| SMART Domains |
Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
40 |
111 |
4.5e-9 |
PFAM |
|
transmembrane domain
|
140 |
157 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.0%
- 20x: 86.3%
|
| Validation Efficiency |
96% (43/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show partial prenatal lethality, polydipsia, hyperuricemia, hyperuricosuria and polyuria, and develop urate nephropathy, characterized by obstructive lithiasis, tubulointerstitial inflammation, cortical fibrosis, renal insufficiency and reduced male weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,547,880 (GRCm39) |
K286R |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,302,581 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,152,706 (GRCm39) |
K733T |
probably damaging |
Het |
| Cenpn |
T |
G |
8: 117,652,946 (GRCm39) |
I39R |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,433,251 (GRCm39) |
Y112F |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,986,809 (GRCm39) |
C361F |
probably damaging |
Het |
| Ctf2 |
T |
C |
7: 127,318,685 (GRCm39) |
T105A |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,364,970 (GRCm39) |
T3584S |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,914,896 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,514,265 (GRCm39) |
|
probably benign |
Het |
| Fbxo17 |
T |
A |
7: 28,432,953 (GRCm39) |
V158E |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
| Gm5698 |
G |
T |
1: 31,016,366 (GRCm39) |
D228E |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,059,277 (GRCm39) |
D248E |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,647,281 (GRCm39) |
S342P |
probably benign |
Het |
| Krt36 |
G |
A |
11: 99,993,654 (GRCm39) |
R395C |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,506,209 (GRCm39) |
S1920P |
probably benign |
Het |
| Lsm14b |
T |
A |
2: 179,673,334 (GRCm39) |
|
probably benign |
Het |
| Map1a |
A |
G |
2: 121,130,741 (GRCm39) |
E519G |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,543 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,846,419 (GRCm39) |
Y387C |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,154,449 (GRCm39) |
N1063D |
possibly damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,524,217 (GRCm39) |
H421L |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4a81 |
A |
G |
2: 89,619,675 (GRCm39) |
V7A |
possibly damaging |
Het |
| Pacrg |
A |
T |
17: 10,622,268 (GRCm39) |
Y235* |
probably null |
Het |
| Pde4dip |
T |
A |
3: 97,620,512 (GRCm39) |
D1629V |
possibly damaging |
Het |
| Prl8a2 |
G |
T |
13: 27,537,935 (GRCm39) |
S204I |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,624,294 (GRCm39) |
M356K |
possibly damaging |
Het |
| Sh3tc2 |
A |
C |
18: 62,124,247 (GRCm39) |
S972R |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,946 (GRCm39) |
V557M |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,612 (GRCm39) |
I455V |
probably benign |
Het |
| Umodl1 |
T |
G |
17: 31,221,772 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,112,733 (GRCm39) |
T658A |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,720,618 (GRCm39) |
Y1119H |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,122,763 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Slc2a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02232:Slc2a9
|
APN |
5 |
38,594,013 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02505:Slc2a9
|
APN |
5 |
38,594,002 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03096:Slc2a9
|
APN |
5 |
38,508,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
transporter9
|
UTSW |
5 |
38,539,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Slc2a9
|
UTSW |
5 |
38,556,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0395:Slc2a9
|
UTSW |
5 |
38,610,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Slc2a9
|
UTSW |
5 |
38,637,487 (GRCm39) |
start gained |
probably benign |
|
|
R0610:Slc2a9
|
UTSW |
5 |
38,537,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Slc2a9
|
UTSW |
5 |
38,539,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Slc2a9
|
UTSW |
5 |
38,539,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Slc2a9
|
UTSW |
5 |
38,610,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2257:Slc2a9
|
UTSW |
5 |
38,610,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4066:Slc2a9
|
UTSW |
5 |
38,640,692 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4193:Slc2a9
|
UTSW |
5 |
38,556,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4502:Slc2a9
|
UTSW |
5 |
38,556,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4734:Slc2a9
|
UTSW |
5 |
38,539,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Slc2a9
|
UTSW |
5 |
38,574,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5218:Slc2a9
|
UTSW |
5 |
38,610,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Slc2a9
|
UTSW |
5 |
38,598,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Slc2a9
|
UTSW |
5 |
38,610,464 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6983:Slc2a9
|
UTSW |
5 |
38,549,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Slc2a9
|
UTSW |
5 |
38,610,214 (GRCm39) |
splice site |
probably null |
|
|
R7286:Slc2a9
|
UTSW |
5 |
38,610,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7405:Slc2a9
|
UTSW |
5 |
38,549,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Slc2a9
|
UTSW |
5 |
38,574,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7594:Slc2a9
|
UTSW |
5 |
38,508,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8212:Slc2a9
|
UTSW |
5 |
38,637,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8508:Slc2a9
|
UTSW |
5 |
38,539,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9167:Slc2a9
|
UTSW |
5 |
38,549,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation